Role of the Genetic Counselor in Familial Cancer

Role of the Genetic Counselor in Familial Cancer

The authors have compiled an excellent summary of the basic components
of cancer risk counseling and the role of the genetic counselor
in this process. They note that such counseling may have a different
scope, depending on the individual's level of risk. They also
point out that the approach to each case tends to be unique, due
to individual psychological concerns, interpretation of family
history and available risk data, and options for genetic testing
and prevention or early detection. I would like to expand on the
topics discussed in four major areas: counseling cancer survivors,
the role of oncologists and primary-care physicians in cancer
risk counseling, informed consent issues, and directions of current
and future research.

Counseling Cancer Survivors: Genetic Testing and Pretest Education

The authors focus their article on counseling individuals at risk
for cancer. However, the special concerns of cancer survivors
should also be addressed. As Peters and Stopfer mention, predictive
genetic testing, via linkage analysis or direct mutation screening,
usually does not occur unless at least one or several affected
relatives have also undergone testing to establish linkage to
the gene in question or the presence of a disease-conferring mutation.
A priori, this establishes a situation in which family members
with cancer may feel somewhat pressured to participate in testing
programs for the benefit of individuals wishing to know their
own risk status. In many instances, although the consultand (person
being counseled) has received comprehensive genetic counseling,
the affected relatives may be distantly located, and thus, may
not be able to make arrangements for similar pretest education.

Informing the Relatives

In such situations, it is important that these individuals receive
from the consultand or genetic counselor a description of the
study and a copy of the informed consent form before being asked
to provide a blood sample for testing. In many cases, affected
relatives will have prior knowledge about the study since they
were probably asked to help obtain documentation of their cancer
history. The counselor should be sensitive to the timing of an
invitation for affected relatives to participate in genetic counseling
and testing, as individuals newly diagnosed or currently undergoing
treatment are usually and appropriately concerned first and foremost
about their recovery. When contacting these relatives by phone,
the counselor should explore their understanding of the study
and their reasons for participation, explain the informed consent,
and importantly, emphasize that positive results could have implications
for them, in addition to the consultand.

Participants should understand the potential medical and psychosocial
consequences of a positive result-the former being the possibility
that they may be at increased risk for additional primary cancers,
and the latter evoking concerns about insurance issues and possible
feelings of guilt and changes in self-image. Because of the seriousness
of these ramifications, participants are strongly encouraged to
attempt to receive their results, whether positive or negative,
in person, and if possible, from the genetic counselor coordinating
the study. Alternatively, the genetic counselor can usually arrange
to coordinate test results disclosure with a conveniently located
colleague (ie, a genetic counselor, an oncology nurse, or a physician)
and then follow up personally by phone. It is preferable not to
convey results in a letter or over the phone, even if negative,
although it is recognized that in some highly unusual circumstances,
particularly with very large families that have had long-standing
relationships with the investigators, this situation may be unavoidable.
In these instances, close follow-up becomes even more critical.

There is always the possibility that some affected relatives will
agree to participate in genetic studies but will ask not to personally
receive results. In accordance with the ethical doctrine of patient
autonomy, this decision is acceptable in the setting of properly
obtained informed consent. However, it may be worthwhile to recontact
some of these individuals once results are available to confirm
their intentions. Again, one must be concerned about the potential
for coercion, especially when the results are known. Of course,
there exists the strong possibility that these individuals will
learn of their results second-hand, without the benefit of proper
education and counseling.

Pretest Education

When the genetic counselor is able to provide pretest education
in person to cancer survivors, the tone and flow of the session(s)
tend to be somewhat different from those in which the consultand
has no history of cancer. While it is still important to elicit
a detailed medical and surveillance history, the focus of the
session with survivors is often on reasons for participation in
genetic studies. The counselor should acknowledge that participation
for the benefit of other relatives is perfectly acceptable but
that the possibility of a positive result and the risk for other
cancers are serious potential implications. This information should
be sensitively conveyed by the counselor so as not to undermine
the individual's sense of having successfully combated the cancer.
It can often be devastating for these individuals to learn that
they may be at substantially increased risk for other cancers,
especially if their physician has not addressed this possibility.

In discussing the approach to risk assessment, counselors often
inform patients of the tremendous utility of family history information
but must also caution them about the inherent limitations of these
analyses, such as the inability to distinguish sporadic from inherited
cancers and the difficulty in attributing environmental or exogenous
factors as causative. Although second primary tumors are often
a hallmark of inherited cancer, they may also be due to the effects
of prior cancer treatment or to other, as yet poorly understood
epidemiologic associations. Regarding the latter point, all women
with a prior history of breast cancer face some increased risk
for contralateral breast cancer [1,2], ovarian cancer [3], and,
possibly, other adenocarcinomas [4]. These risks are obviously
drastically increased if the woman's family history is suggestive
of a hereditary cancer syndrome, but nonetheless should be addressed
routinely when counseling this special population and when formulating
guidelines for surveillance in conjunction with the woman's oncologist.

In addition to the possible risks for second primary cancers due
to an inherited predisposition, it is important to recognize that
some seemingly "atypical" occurrences of cancer may
be treatment induced. For example, studies have revealed that
patients with Hodgkin's disease treated with radiation to the
upper part of the body (mostly to the mantle field), with or without
chemotherapy, have an increased risk of developing breast cancer,
depending on the age at which they were treated for Hodgkin's
disease [5,6]. A 1992 study by Yahalom et al [6] suggests that
these patients tend to be younger (41% were 39 years old or younger)
and have a higher rate of bilateral disease than patients with
primary breast cancer. It is therefore critical to ensure that
follow-up for young women with Hodgkin's disease includes frequent
breast examination and prudent use of mammography, both initiated
routinely before the age of 35 years [7]. When considering cancer
risks for women with a prior history of breast cancer treated
with regional radiation and alkylating agents, the counselor should
be aware that these individuals have an increased likelihood of
developing acute nonlymphocytic leukemia [8].

Other concerns that may be relevant to some cancer survivors involve
issues of decreased fertility after treatment, especially after
radiation and/or chemotherapy with alkylating agents. For some
women, risks of miscarriage and other pregnancy complications
may also be increased. Although radiation and chemotherapy are
potentially mutagenic, it does not appear that the risk of congenital
malformations in offspring is higher than the population average.
Mulvihill and Byrne provide a general overview of these issues
[9].

Role of Oncologists and Primary-Care Physicians in Cancer Risk
Counseling

It seems apparent that genetic counselors should not be the first
professionals to broach the issue of second primary cancers with
survivors. Indeed, the patient's oncologist should address these
issues and assimilate family history information into clinical
management decisions. At a minimum, physicians should collect
and recognize family histories that are suggestive of inherited
cancer predisposition syndromes. These evaluations are critical,
for example, in determining that mastectomy and possible contralateral
prophylactic mastectomy may be a more appropriate treatment strategy
than simple lumpectomy for a woman with breast cancer if her family
history is consistent with an inherited breast cancer predisposition
syndrome, especially if there is a history of bilateral and/or
multifocal tumors. Similarly, a woman with early-stage colon cancer
and a family history of hereditary nonpolyposis colon cancer should
be considered for subtotal colectomy given her high risk for synchronous
and metachronous colon cancers. In addition, the possible advantages
to performing concomitant prophylactic hysterectomy and oophorectomy
should be discussed.

Given the demands on physicians' time, interested patients will
have to be referred for comprehensive genetic counseling. However,
commercial companies have already been directly marketing genetic
tests to physicians. These include tests for inherited cancer
susceptibility and genetic markers of cancer prognosis. Thus,
it seems inevitable that physicians will become largely responsible
for offering and interpreting such tests, especially since the
number of genetic counselors and nurses specially trained in oncology
is very small.

Numerous studies have demonstrated that providers' attitudes about
genetic testing are influenced by their age, gender, knowledge,
and specialty [10-12], factors that also may affect the provider's
level of directiveness in offering testing (ie, recommending testing
to patients, as opposed to discussing it as an option) [13]. In
addition, it has been shown that individuals with a family history
of cancer are often very anxious [14,15], which may also influence
the provider's decision about testing. For these reasons, guidelines
should be established so that physicians are equipped to responsibly
address what is sure to be a great demand for testing. It is the
obligation of those of us who are currently involved in cancer
risk counseling and genetic testing to work together with physicians
and other involved professionals to meet these needs. These points
were raised recently at a national workshop sponsored by the National
Cancer Institute [16-18].

Informed Consent

One of the issues that will be critically important as consumers
become more aware of genetic testing, and as such testing becomes
more widely available via the commercial domain, is informed consent.
The authors describe the minimal components of standard informed
consent, as well as the complexities that should be addressed
germane to cancer susceptibility testing. I will emphasize two
significant points. The first relates to insurance issues. Patients
should be informed of the potential for insurance problems and
how these may be minimized. Some investigators have obtained from
the federal government a "certificate of confidentiality"
to protect research subjects from having their records subpoenaed,
but this document clearly does not provide a practical level of
protection.

The Ad Hoc Committee on Genetic Testing/Insurance Issues of the
American Society of Human Genetics nicely outlined issues to be
considered in policy development [19]. With or without health-care
reform, it is time for those of us involved in the provision of
genetic services to mandate nationwide legislation to protect
our patients from discrimination. In the meantime, participants
in genetic research should be encouraged to speak candidly with
their physicians about insurance concerns. Consultands already
know that their medical records contain information about their
family history but should be cautioned about written communication
of genetic counseling or testing assessments. In many instances,
a persistent physician could justify additional interventions
or prophylactic surgery to the insurance company based only on
family history.

This raises the second point about which consumers should be educated,
namely, that there are no standardized protocols for clinical
management of individuals with a family history of cancer or for
those carrying disease-conferring mutations. Although such protocols
are being formulated based on clinical experience, the community
awaits prospective and, where possible, randomized studies to
guide their development.

Directions for Ongoing and Future Research

The issues raised by the authors and the additional concerns discussed
in this commentary suggest more questions than answers. Therefore,
it may be useful to summarize some of these points by noting a
few areas of current and future research:

Development of minimal components of informed consent for
genetic testing and methods for optimal delivery of such information;

Determination of the psychological and behavioral impact of
cancer risk notification and appropriate methods of intervention;

Assessment of providers' level of knowledge and attitudes
about cancer susceptibility testing and development of appropriate
educational programs and referral networks; and

Development of recommendations for clinical management of
individuals carrying mutations predisposing to cancer.